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Article

Additional evidence supports GRM6 p.Thr178Met as a cause of congenital stationary night blindness in three horse breeds.

Veterinary ophthalmology - 1 May 2024

Esdaile Elizabeth, Knickelbein Kelly E, Donnelly Callum G, Ferneding Michelle, Motta Monica J, Story Brett D, Avila Felipe, Finno Carrie J, Gilger Brian C, Sandmeyer Lynne, Thomasy Sara, Bellone Rebecca R

Abstract excerpt

Congenital stationary night blindness (CSNB) is an ocular disorder characterized by nyctalopia. An autosomal recessive missense mutation in glutamate metabotropic receptor 6 (GRM6 c.533C>T, p.(Thr178Met)), called CSNB2, was previously identified in one Tennessee Walking Horse and predicted to reduce binding affinity of the neurotransmitter glutamate, impacting the retinal rod ON-bipolar cell signaling pathway....

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Identifiers

PMID: 37815029
DOI: 10.1111/vop.13151
PMCID: PMC13267762

Genes

ERG
GRM6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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